ch 54, 58, and 59 Flashcards
Enlargement of the fetal cranium as a result of ventriculomegaly
macrocephaly
Most severe form of holoprosencephaly characterized by a single common ventricle and a malformed brain
alobar holoprosencephaly
Increase in size of the jugular lymphatic sacs caused by abnormal development
cystic hygroma
Neural tube defect of the spine in which the dorsal vertebrae fail to fuse together, allowing the protrusion of meninges and/or spinal cord through the defect
spina bifida
Abnormal accumulation of cerebrospinal fluid within the cerebral ventricles leading to dilatation of the ventricle; compression of developing brain tissue and brain damage may result; commonly associated with additional fetal anomalies
ventriculomegaly
An abnormality or congenital malformation
anomaly
Congenital absence of the cerebral hemispheres caused by occlusion of the carotid arteries, midbrain structures are present, and fluid replaces cerebral tissue
hydranencephaly
Open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac
meningomyelocele
Ventriculomegaly in the neonate, abnormal accumulation of cerebrospinal fluid within the cerebral ventricles resulting in compression and, frequently, destruction of brain tissue
hydrocephalus
Form of holoprosencephaly characterized by a common ventricle, hypotelorism, and a nose with a single nostril
cebocephaly
Closed defect of the spine without protrusion of meninges or spinal cord
spina bifida occulta
Neural tube defect characterized by lack of development of the cerebral and cerebellar hemispheres and cranial vault; this abnormality is incompatible with life
anencephaly
Condition associated with anencephaly in which there is complete or partial absence of the cranial bones
acrania
Severe form of holoprosencephaly characterized by a common ventricle, fusion of the orbits with one or two eyes present, and a proboscis
cyclopia
Open spinal defect characterized by protrusion of the spinal meninges
meningocele
Range of abnormalities resulting from abnormal cleavage of the forebrain
holoprosencephaly
Malformation of the lymphatic system that leads to single or multiloculated lymph filled cavities around the neck
fetal cystic hygroma
premature closure of cranial sutures
craniosynostoses
underdevelopment of the jaw and cheek bone and abnormal ears
treacher collins syndrome
head smaller than the body
microcephaly
cystic dilatation of the lacrimal sac at the nasocanthal angle
dacryocystocele
absent eyes
anophthalmia
small chin
micrognathia
congenital defect caused by an extra chromosome, which causes a deficiency in the forebrain
holoprosencephaly
absence of the nose
arrhinia
increased thickness in the nuchal fold area in the back of the neck associalted with trisomy 21
nuchal lucency
abnormal protrusion of the eyeball
exophthalmia
protrusion of the brain from the cranial cavity
cephalocele
enlargement of the thyroid gland
fetal goiter (thyromegaly)
hereditary disease caused by failure to oxidize an amino acid (phenylalanine) to tyrosine because of a defective enzyme, can lead to mental retardation
phenylketonuria (PKU)
eyes too far apart
hypertelorism
underdevelopment of the eyes, fingers, and mouth
oculodentodigital dysplasia
eyes too close together
hypotelorism
small eyes
microphthalmia
Premature closure of the metopic suture
trigonocephaly
Micrognathia and abnormal smallness of the tongue, usually with a cleft palate
pierre robin sequence
eye disorder in which optic axes cannot be directed to the same object
strabismus
abnormal smallness of one side of the face
hemifacial microsomia
group of disorders having in common the coexistence of an omphalocele, macroglossia, and visceromegaly
beckwith wiedemann syndrome
teratoma located in the oropharynx
epignathus
hypertrophied tongue
macroglossia
a cylindrical protuberance of the face that in cyclopia or ethmocephaly represents the nose
proboscis
underdevelopment of the jaw that causes the ears to be located close together toward the front of the neck
otocephaly
cystic defect that arises from the primitive branchial apparatus
branchial cleft cyst
solid tumor
teratoma
What is the best plane to image cleft lip and pallet?
Modified Coronal View
premature closure of any or all six of the cranial sutures and causes fetal cranium to become abnormally shaped .
craniosynostosis
Extensive facial screening may be hindered by
Bone Shadowing
poor fetal position
oligohydramnios
maternal obesity
what is the optimal gestational age for measuring the NT
11 weeks to 13 weeks, 6 days
Most common neck mass
cystic hygroma colli (lymphatic obstruction)
% of cystic hygromas associated w/ chromosomal anamalies
50%
what does a Proboscis suggest
holoprosencephaly
what is the most common malformation of the face
cleft lip (with or without cleft palate)
what are the differential considerations for cystic hygroma
meningomyelocele encephalocele nuchal edema branchial cleft cyst cystic teratoma hemangioma thyroglossal duct cyst
small chin
micrognathia
What is elongated forehead in sag plane and triangular in axial plane
trigonocephaly
Nasal triad is what and what should it include?
nostril symmetry
nasal septum integrity
continuity of the upper lip to exclude cleft lip and palate.
Cleft lip with or w/o pallet seen more in what groups
native americans
ear malformations can be found in what
treacher collins syndrome goldenhars syndrome hemifacial microsomia roberts syndrome collins syndrome otocephaly
fetal goider………
usually appears as a symmetrical (bilobed), solid, homogeneous mass arising from the anterior fetal neck in the region of the thyroid gland. (page 1286)
How many facial anomalies occur in how many births
1 in 600 births
Which neural tube defect is a result of lack of cerebral hemisphere and vault
anencephaly
What central nervous system anomaly shows splaying in the cerebellar hemispheres
Dandy Walker Malformation
Complete or absence of cranial bones is what
acrania (AKA exencephaly)
Other anomalies associated with anencephaly
cleft lip and palate hydronephrosis diaphragmatic hernia cardiac defects omphalocele gastrointestinal defects talipes
Most severe form of holoprosencephaly
alobar holoprosencephaly
Absence of cavum septum pellucidum is a characteristic of what
holoprosencephaly
Facial anomalies associated with holoprosencephaly
cyclopia hypotelorism absent nose flattened nose with single nostril proboscis cebocephaly ethmocephaly facial clefts
Characteristics that go with Arnold chiari malformation
associated with spina bifida in which the cerebellum and brain stem are pulled toward the spinal cord and secondary hydrocephalus develops
Characterized:
1) Chiari 1 - downward displacement of the cerebellar tonsils, without displacement of the fourth ventricle
2) Chiari 2 - Most common and greatest clinical importance because of it’s association with meningomyelocele
3) Chiari 3 - High cervical encephalomeningocele in which the medulla, fourth ventricle, and cerebellum reside
What has posterior fossa cyst and splaying of cerebelar hemisphere
Dandy Walker Malformation
Absence of cerebral hemispheres resulting in occlusion of carotid arteries
hydranencephaly
What measurement is ventriculomegoly
> 10 mm
What open spinal defect is characterized by protrusion of meninges and spinal cord through a defect
meningomyelocele
Conditions associated with fetal hydrocephalis
occurs when ventriculomegaly is coupled with enlargement of the fetal head
aqueductal stenosis
arachnoid cysts
galen aneurysms
Ventriculomegoly with a large head is what
hydrocephalis
Most common open neural tube defect
spina bifida
Fetal head anomaly characterized by single ventricle
alobar holoprosencephaly
Vein of galen
rare arteriovenous malformation
vein is enlarged and will communicate with normal appearing arteries
sporadic event with male predominance
usually isolated anomaly
Different forms of holoprosencephaly
alobar, most severe
semilobar, intermediate
lobar, mildest
True or False question about microcephaly
microcephaly is on page 1308
Differential considerations for anencephaly
microcephaly
acrania
cephalocele
Herneation of meninges and brain through calvarium defect
encephalomeningocele (form of cephalocele)
Differential considerations for dandy walker malformation
arachnoid cyst
cerebellar hypoplasia